medigraphic.com
SPANISH

Revista Médica Sinergia

Revista Médica Sinergia
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

2021, Number 03

<< Back Next >>

Revista Médica Sinergia 2021; 6 (03)

Breast cancer associated with mutation in the BRCA-1 and BRCA-2 genes

Chavarría CGF, Blanco NEG, Garita FYM
Full text How to cite this article

Language: Spanish
References: 17
Page: 1-10
PDF size: 214.83 Kb.


Key words:

BRCA1 protein, BRCA2 protein, mutation, breast neoplasms, histology, phenotype.

ABSTRACT

Breast cancer is the most common malignant tumor in women and the leading cause of death in developed countries. Its incidence is increasing but its early diagnosis has managed to reduce mortality. In some cases, breast cancer is due to inherited genetic mutations. The tumor tissue of breast cancers related to mutations in the germ line requires a detailed histological and molecular study that determines the main characteristics of the tumor in order to establish risk, management, prognosis and survival of the patient. The genes most implicated with mutations in the germ line are BRCA1 and BRCA2. Those tumors associated with these mutations present more aggressive tumor characteristics in relation to those who do not carry a mutation, which is related to a worse prognosis.


REFERENCES

  1. Bleiweiss, I. Pathology of breast cancer. Uptodate, [online]. 2020; 1. Available at: https://www.uptodate.com/contents/pathology-of-breast-cancer

  2. Joe, B. Clinical features, diagnosis, and staging of newly diagnosed breast cancer. Uptodate, [online]. 2020; 1. Available at: https://www.uptodate.com/contents/clinical-features-diagnosis-and-staging-of-newly-diagnosed-breast-cancer

  3. Pogoda, K., Niwińska, A., Sarnowska, E., Nowakowska, D., Jagiełło-Gruszfeld, A., Siedlecki, J. and Nowecki, Z. Effects of BRCA Germline Mutations on Triple-Negative Breast Cancer Prognosis. Journal of Oncology. 2020; 2. https://doi.org/10.1155/2020/8545643

  4. Baretta, Z., Mocellin, S., Goldin, E., Olopade, O. and Huo, D. Effect of BRCA germline mutations on breast cancer prognosis. Medicine. 2016; 95(40): 1. https://doi.org/10.1097/MD.0000000000004975

  5. Peña, Y., González, M., Céspedes, Á., Velázquez, L. and López, Y. Factores de riesgo para padecer cáncer de mama en la población femenina. Revista Finlay, [online]. 2017; 287. Available at: http://scielo.sld.cu/pdf/rf/v7n4/rf08407.pdf

  6. Isaacs, C. and Peshkin, B. Cancer risks and management of BRCA1/2 carriers without cancer. Uptodate, [online]. 2020; 2-4. Available at: https://www.uptodate.com/contents/cancer-risks-and-management-of-brca1-2-carriers-without-cancer

  7. Chen, W. Patient education: Factors that modify breast cancer risk in women (Beyond the Basics). Uptodate, [online]. 2020; 8, 9. Available at: https://www.uptodate.com/contents/factors-that-modify-breast-cancer-risk-in-women-beyond-the-basics

  8. Espinosa, M. Cáncer de mama. Revista médica Sinergia, [online]. 2018; 9. Available at: https://www.medigraphic.com/pdfs/sinergia/rms-2017/rms171b.pdf

  9. Medina, G. Clinical and prognostic characteristics of the molecular subtypes of breast cancer determined by immunohistochemistry. Arequipa, Peru. Revista Perú médica, [online]. 2017; 34: 472. Available at: http://www.scielo.org.pe/scielo.php?script=sci_arttext&pid=S1726-46342017000300014

  10. Madrigal, A. and Mora, B. Generalidades de cáncer de mama para médico general. Medicina Legal de Costa Rica Edición Virtual, [online]. 2018; 35: 73. Available at: https://www.scielo.sa.cr/pdf/mlcr/v35n1/1409-0015-mlcr-35-01-44.pdf

  11. Anders, C. and Carey, L. ER/PR negative, HER2-negative (triple-negative) breast cancer. Uptodate, [online]. 2020; 1. https://doi.org/10.1142/9789813277762_0001

  12. Foukakis, T. and Bergh, J. Prognostic and predictive factors in early, non-metastatic breast cancer. Uptodate, [online]. 2020; 3. Available at: https://www.uptodate.com/contents/prognostic-and-predictive-factors-in-early-non-metastatic-breast-cancer

  13. Millan Catalan, O., Campos-Parra, A., Vázquez-Romo, R., Cantú de León, D., Jacobo-Herrera, N., Morales-González, F., López-Camarillo, C., Rodríguez-Dorantes, M., López-Urrutia, E. and Pérez-Plasencia, C. A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population. Cancers, [online]. 2019; 11(9): 1246. https://doi.org/10.3390/cancers11091246

  14. Briceño, I., Gómez, A., Díaz, N., Noguera, M., Díaz, D. and Casas, M. Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia. Revista Colombia médica, [online]. 2017; 48: 58. https://doi.org/10.25100/cm.v48i2.1867

  15. Jouhadi, H., Tazzite, A., Azeddoug, H., Naim, A., Nadifi, S. and Benider, A. Clinical and pathological features of BRCA1/2 tumors in a sample of high-risk Moroccan breast cancer patients. BMC Research Notes, [online]. 2016; 9: 2, 4. https://doi.org/10.1186/s13104-016-2057-8

  16. Lang, G., Xiu, J., Hu, X., Zhang, H., Shan, L. and Song, C. The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing. Pubmed. 2017; 130-136. Available at: http://file:///C:/Users/User/Documents/Articulo%20Ca%20mama/The%20Spectrum%20of%20BRCA%20Mutations%20China.pdf

  17. Shah, P., Patil, S., Dickler, M., Offit, K., Hudis, C. and Robson, M. Twenty-one-gene recurrence score assay inBRCA-associated versus sporadic breast cancers: Differences based on germline mutation status. Cancer, [online]. 2016; 122(8): 1180. https://doi.org/10.1002/cncr.29903




2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Revista Médica Sinergia. 2021;6